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. 2025 Apr 9;20(1):168.
doi: 10.1186/s13023-025-03671-x.

Consensus-based recommendations for the rehabilitation of children with arthrogryposis multiplex congenita: an integrated knowledge translation approach

Noémi Dahan-Oliel  1   2 , Sarah Cachecho  3 , Clarice Araujo  1   2 , Alicja Fąfara  4 , Francis Lacombe  5 , Ani Samargian  6 , Camille Costa  1   7 , Maureen Donohoe  8 , Ann Flanagan  9 , Bart Kowalczyk  10 , Courtney Krakie  11 , Lisa Wagner  12 , Carolina Navalón  13 , Verity Pacey  14 , Unni Steen  15 , Misha Walker  16 , Trudy Wong  1 , André Bussières  2   17
Affiliations

Consensus-based recommendations for the rehabilitation of children with arthrogryposis multiplex congenita: an integrated knowledge translation approach

Noémi Dahan-Oliel et al. Orphanet J Rare Dis. .

Abstract

Background: Arthrogryposis multiplex congenita (AMC) is a group of rare disorders characterized by multiple joint contractures present at birth. Early rehabilitation is essential to minimize joint contractures and maximize autonomy and participation among individuals with AMC. However, there is little robust scientific evidence to inform best practice. This project aimed to develop consensus-based recommendations for the rehabilitation management of children with AMC in the following priority areas: early intervention and motor development, muscle and joint function, orthotics, mobility, participation in areas of life, pain, psychosocial wellbeing, and perioperative rehabilitation.

Results: This multi-phase project used an integrated knowledge translation approach. Based on the results from scoping reviews on the priority areas identified for the rehabilitation of children with AMC, and a clinician survey describing current practices in AMC rehabilitation, three panels of expert clinicians in occupational therapy, physical therapy, orthopedics, physiatry, and social work, as well as people with lived experience and researchers from 10 countries developed consensus-based recommendations for rehabilitation, in concordance with the Grading of Recommendations, Assessment, Development and Evaluations framework (GRADE) criteria. A modified Delphi process was completed with a wider group of international AMC experts to revise and validate the recommendations (Round 1 = 41 and Round 2 = 37 experts). A five-member external review panel appraised the recommendations using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) tool. The final 16 recommendations reached a mean agreement rate of 96.6% after two Delphi rounds. The overall quality was rated at 96.6% on the AGREE II tool. Interviews with clinicians and managers identified facilitators and barriers to implementation of the recommendations in practice using the Theoretical Domain Framework.

Conclusion: Consensus-based, expert validated recommendations for the rehabilitation of children with AMC were developed by a wide range of stakeholders, healthcare users and providers. The proposed recommendations are expected to contribute to improving child- and family-centered practice and health outcomes. Future work includes a knowledge translation strategy to promote sharing and implementation of the recommendations in practice.

Keywords: Arthrogryposis multiplex congenita; Consensus-based recommendations; Integrated knowledge translation; Modified Delphi; Pediatrics; Rare diseases; Rehabilitation.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: We obtained site approval from the Shriners Hospitals for Children (CAN2004) and ethics approval from the institutional review board of the Faculty of Medicine of McGill University (A03- E51-20B). Electronic consent was obtained prior to participation in Phases 1 and 3. Consent for publication: All authors provided consent for publication. Competing interests: No competing interest to declare.

Figures

Fig. 1
Fig. 1
Integrated knowledge translation (iKT) multi-phase project for the development of rehabilitation recommendations for children with AMC [17]. Legend: IKT approach involving individuals with lived experience, health care practitioners and researchers, in all phases of the research process
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